Variant report

Variant	rs6572288
Chromosome Location	chr14:45367833-45367834
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:45365431-45368515	HepG2	liver:	n/a	n/a
2	MAZ	chr14:45365893-45367994	IMR90	lung:	n/a	chr14:45367078-45367087 chr14:45367078-45367088 chr14:45366892-45366902
3	POLR2A	chr14:45365544-45368347	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:45366108-45368253	IMR90	lung:	n/a	n/a
5	POLR2A	chr14:45365872-45368311	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45365477..45369212-chr14:45721451..45724440,3	MCF-7	breast:
2	chr14:45365342..45368511-chr14:45602012..45605909,4	MCF-7	breast:
3	chr14:45364937..45368444-chr14:45721075..45725396,9	MCF-7	breast:
4	chr1:117452390..117454247-chr14:45365454..45368358,2	MCF-7	breast:
5	chr14:45366139..45368285-chr17:56735222..56738242,3	MCF-7	breast:
6	chr14:45366802..45368333-chr14:45390243..45392661,2	MCF-7	breast:
7	chr11:65485409..65487052-chr14:45365480..45368085,2	MCF-7	breast:
8	chr14:45366933..45369023-chr20:32256770..32258931,2	MCF-7	breast:
9	chr14:45366346..45369460-chr14:45369465..45372322,3	K562	blood:
10	chr1:55679625..55681662-chr14:45367033..45368986,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258633	TF binding region
C14orf28	TF binding region
ENSG00000172977	Chromatin interaction
ENSG00000129534	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000179476	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000162402	Chromatin interaction
ENSG00000134247	Chromatin interaction
ENSG00000100442	Chromatin interaction
ENSG00000125967	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11847071	1.00[GIH][hapmap];0.85[TSI][hapmap]
rs11847933	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11851516	0.82[AFR][1000 genomes]
rs11851764	1.00[EUR][1000 genomes]
rs11852210	0.81[LWK][hapmap]
rs17115677	0.91[AFR][1000 genomes]
rs17115679	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17115680	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17115681	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs45550535	1.00[EUR][1000 genomes]
rs56988712	1.00[EUR][1000 genomes]
rs57494105	1.00[EUR][1000 genomes]
rs58152153	1.00[EUR][1000 genomes]
rs58557583	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59698927	1.00[EUR][1000 genomes]
rs60713065	1.00[EUR][1000 genomes]
rs73347154	1.00[EUR][1000 genomes]
rs73347158	1.00[EUR][1000 genomes]
rs73347179	1.00[EUR][1000 genomes]
rs73347182	1.00[EUR][1000 genomes]
rs73347199	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348920	1.00[EUR][1000 genomes]
rs73348927	1.00[EUR][1000 genomes]
rs73348928	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv3355498	chr14:45365427-45368175	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45365000-45368800	Active TSS	Stomach Smooth Muscle	stomach
2	chr14:45365400-45368000	Active TSS	Rectal Smooth Muscle	rectum
3	chr14:45365600-45368000	Active TSS	Brain Angular Gyrus	brain
4	chr14:45365600-45368200	Active TSS	Aorta	Aorta
5	chr14:45365800-45368000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:45365800-45368000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr14:45365800-45368000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:45365800-45368000	Active TSS	Brain Cingulate Gyrus	brain
9	chr14:45365800-45368000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr14:45365800-45368000	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr14:45365800-45368200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:45366000-45368000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr14:45366000-45368000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:45366000-45368000	Active TSS	Fetal Lung	lung
15	chr14:45366000-45368000	Active TSS	Fetal Muscle Leg	muscle
16	chr14:45366000-45368000	Active TSS	NH-A	brain
17	chr14:45366000-45368000	Active TSS	NHDF-Ad	bronchial
18	chr14:45366000-45368200	Active TSS	Colon Smooth Muscle	Colon
19	chr14:45366000-45368200	Active TSS	HMEC	breast
20	chr14:45366000-45368400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:45366000-45368400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:45366000-45368400	Active TSS	Fetal Stomach	stomach
23	chr14:45366000-45368400	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr14:45366000-45368400	Active TSS	HSMMtube	muscle
25	chr14:45366000-45368600	Active TSS	Right Atrium	heart
26	chr14:45366000-45368600	Active TSS	NHLF	lung
27	chr14:45366200-45368000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:45366200-45368200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:45366200-45368200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:45366200-45368400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:45366400-45368200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:45366400-45368200	Active TSS	Psoas Muscle	Psoas
33	chr14:45366400-45368200	Active TSS	Right Ventricle	heart
34	chr14:45366400-45368600	Active TSS	Ovary	ovary
35	chr14:45367000-45368200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr14:45367000-45368200	Active TSS	Fetal Brain Male	brain
37	chr14:45367200-45368000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr14:45367200-45368200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:45367200-45368200	Flanking Active TSS	Osteobl	bone
40	chr14:45367200-45368400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:45367200-45368400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr14:45367200-45376400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:45367400-45368000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:45367400-45368000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr14:45367400-45368000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr14:45367400-45368000	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr14:45367400-45368000	Weak transcription	Left Ventricle	heart
48	chr14:45367400-45368000	Flanking Active TSS	A549	lung
49	chr14:45367400-45368200	Enhancers	Primary B cells from peripheral blood	blood
50	chr14:45367400-45368200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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